Joselin Linder shares a unique and deadly genetic mutation with just fourteen other people in the world -- and must make a difficult choice as a result.
Joselin Linder's work has appeared in The New York Post, as well as on Morning Edition, Joe's Pub, and Life of the Law. er book, The Family Gene, comes out in paperback on June 12, 2018.
This story originally aired on Apr. 27, 2018, in an episode titled Challenges.
Story Transcript
So I’m laying down in front of these three arguably hot guys and they are discussing whether or not to shave my groin, just the right side, but it’s a medical procedure. I’m actually being prepped for a liver biopsy and I’m on a hospital gurney.
The reason they're discussing my groin is because, other than the obvious piece of that sentence, they have to go in through your jugular and then thread a radioactive wire through your heart and into your liver. But if for some reason they can’t access the liver that way, they wanted a second access point in the femoral vein in your groin. So they were discussing whether or not to do that.
But we all kind of have this moment altogether because I was totally wide awake while this is going on, while this conversation is happening. I was the kind of awake that comes from having had a very good night’s sleep the night before. It was mostly because I wasn’t even a little bit scared.
I know what you're thinking. Like they don’t just do liver biopsies. There has to be a reason. But I understood something that I feel like even my doctors didn’t. I had a rare genetic disease. It was so rare that only fourteen people had ever had it before me. And twenty years earlier, my father had started to fill with this fluid called chyle, which is made up of lymph and emulsified fats and protein. The problem is if you're a leaking fats and protein you're not digesting it. So, over the course of three years, my father slowly starved to death.
We learned in the subsequent twenty years that there had been other people that had had this similar disease. One of whom was my father’s uncle, my great uncle. He had died in 1961 at the age of 34 of a very similar disease. In fact, he had been studied at the National Institute of Health for ten months, so we had some information.
Over the course of twenty years, this team of researchers at Harvard, the Seidman Lab, had basically put together that the gene was X-linked. Just very quickly, your genetics lesson for the month, men pass male children a Y chromosome, typically, and they pass girls an X. My sister and I we’re not boys so we had inherited this bad gene.
We also understood that in women it presented differently. You had different symptoms over a longer period of time. At this point, I had already started exhibiting symptoms. I had some lymphatic swelling and also my portal vein had just shriveled up and stopped working. It’s a vein that runs through your liver. It’s a major channel. What ends up happening is collateral pathways formed throughout my digestive tract and they're dangerous. They could burst internally and cause serious problems or even death.
So my doctor was like, “Let’s try a liver biopsy.” I was like, “Okay. It can’t hurt and I never had one.”
Then he said something else interesting. He said, “You don’t even need to be under anesthesia for this.”
I was like, at the time, I don't even know. I was like, “That sounds amazing.” So I was like, “Okay.”
So I show up and here I am. I’m wide awake, totally confident and not about to be medicated anytime soon. The four of us, me and these three guys, are realizing that if I get shaved, I’m awake. I’m hanging out; we’re all hanging out.
So they're like, “You're good. We’re gonna just leave it on.”
I’m like, “Thanks. Thanks, guys.”
So we move on. The doctor comes in. He's like, “Hey, Jos, what kinda music do you wanna listen to?” Like this isn’t already a horrible day.
Here’s the thing. If I’m in my car alone, I basically listen to whatever is on next. I'll be like seek or next, I’m like next, next, next. That’s what I listen to in my car. So to have to answer this question quickly felt very overwhelming to me.
In the last five years, I've had time to think about it and you want one of three things in your music during a liver biopsy. You want either to be soothed, your doctor to be calm, or to look cool in front of everybody in the room. I realized to calm me it’s The Kings, and for my doctor it’s Sade, and for it to be cool it’s Lauryn Hill, but I picked R.E.M. which is like no big deal.
R.E.M., they're fine. The fact that they are the soundtrack to my liver biopsy is so weird, but there it is. So R.E.M. comes on and the procedure starts.
The doctor threads the wire through my jugular. So it was numbed. It doesn’t hurt but you can feel the pressure. You can literally feel it moving through your body. Then as it goes down, you feel the pressure moving downward. It felt like I had a wire hanger going from shoulder to shoulder. If I had been standing up I would have had amazing posture.
Finally, things are moving along and the doctor, all of a sudden, his words change, his voice becomes clipped and urgent and he's like, “Joselin, be still. I don't know what’s going on. What’s happening here?”
I am in a state, suddenly, of abject terror. I’m so afraid and I’m freaking out. R.E.M. is like, “Stand in the place where you are,” and I’m like, “Yes.” Then they're like, “Now face north.” I’m like, “No, I’m staying right here. I’m not moving.” I’m so still.
Then as quickly as it started, it stops. He pulls the wire out and he doesn’t say anything and I went home and finished my work day.
A couple of days later he calls and I learn two things. One, my liver is, and I quote, gorgeous. And two, the doctor didn’t understand why the pressures in my abdomen didn’t make any sense. The best I can do to sort of explain this to you guys is the heart pumps and there should be a correlation between the pressure then that fills that is if the blood is moving through your body. So there should be a correlation between your heartbeat and your blood pressure throughout your body. This was not happening in my abdomen and nobody understood why.
So he asked if I would come back and undergo a second procedure. I was like, “Sure.” A couple weeks go by and I showed up for this procedure. And because nothing can ever be easy at the hospital, I had to pee in a cup but I couldn’t. So if any of you have ever been able to be pregnant and had a medical procedure, you know you have to take a pregnancy test. I tried to pee for two hours but I was totally dehydrated. It was a nightmare.
Finally, as lame as that sounds, I came out and I just kind of implored them. I was like, “Look, my marriage is great, but ever since this portal vein thing we have not been having a lot of sex. I’m not pregnant. If we could just move this along I would be so grateful.” And they said okay.
Just so you know, a couple of things were in place at this point. Totally shaved, Sade, and all the drugs. Like every drug that I could possibly have. So that was awesome.
The doctor comes in. They do the procedure. Everything is fine. A few days later I find out two things. The first is that because of our gene, scientists and doctors are learning something that we kind of knew but we didn’t really know that much about. Our livers sort of have their own heartbeat. I mean this like at a much smaller level. It’s nothing like your heartbeat. But the portal vein actually channels blood with its own rhythm. And because my portal vein had shriveled it was no longer doing its part in the body and therefore my blood pressures weren’t aligned.
The second thing I learned is that I was pregnant. This is problematic on a number of levels. First of all, I had just undergone a radioactive procedure, but the second thing was I had a system of dangerous gastric varices running through my body. When you're pregnant your blood supply actually doubles.
I was told that I had a one in four chance of dying if I carried this baby. I was also told, even worse that scared me even more, that if I tried to have this baby there was a great chance I can miscarry or that the baby would be born prematurely or even very sick.
So my husband immediately was like, “I just don’t feel good about this. I don't think we should do this.” It wasn’t because he didn’t want to raise a sick child, but he didn’t want to lose me.
The problem was I was 37 and I was like, “This is my baby. I’m gonna have this baby.”
So we decided we weren’t really going to talk about it until I underwent a procedure called the CVS, which was what was available at the time, and it could test an embryo in its earliest stages to see about its genetic makeup.
I scheduled the appointment. The day before, Hurricane Sandy hit and NYU was unreachable. I couldn’t find anything out. So just to explain this, if you have a rare genetic disease that doesn’t even have a name, you can’t just call somebody else and say, “Hey, can you give me a CVS and find the gene for cystic fibrosis,” or what have you. You don’t have the language. I needed to reach somebody and I absolutely couldn’t.
As the days went by, the thing was I was incredibly early in this pregnancy and I just kind of felt like if it kept going, if each day went by, I wasn’t sure I would be able to do anything about this pregnancy. But the other thing that started to occur to me was that I had actually witnessed my grandmother as she stood over the deathbeds of two sons. I had always thought to myself I will never do that. I have a choice. She didn’t have a choice. She didn’t know. But I knew.
The other thing is, just to give you a little bit of background about these rare genetic diseases, when you think about a disease like cystic fibrosis, which is another monogenetic disease, scientists believe that gene first mutated in Europe 52,000 years ago, which means that it’s been more than 3600 generations. That means that more than 100,000 people live with this horrible disease and hundreds of thousands more carry it.
Our family had had a gene mutate 120 years ago in my great, great-grandmother. Five generations later, there were only this few of us and we had an opportunity that was kind of incredible. It’s like we maybe weren’t going to be able to cure this disease, but we might be able to stop it.
I finally decided that I had to terminate this pregnancy. My husband and I agreed. We made the appointment and we did it. I have to say I have no regrets because, today, there are 25 children in the sixth generation since our gene first mutated and none of them has the family gene.
Thank you.